What management strategies should be considered for a patient diagnosed with phenylketonuria (PKU)?

Management strategies for a patient diagnosed with phenylketonuria (PKU) primarily focus on strict dietary control to maintain blood phenylalanine levels within a safe range, preventing neurocognitive impairment. This involves a lifelong low-phenylalanine diet, which restricts natural protein intake and supplements with phenylalanine-free protein substitutes to ensure adequate nutrition and growth NICE NG206. Regular monitoring of blood phenylalanine concentrations is essential to guide dietary adjustments and prevent toxicity. Early diagnosis through newborn screening allows prompt initiation of treatment, which is critical for optimal neurodevelopmental outcomes NICE NG206.

In addition to dietary management, recent advances highlight the role of adjunct therapies such as sapropterin dihydrochloride (a synthetic form of tetrahydrobiopterin) for patients responsive to this cofactor, which can increase phenylalanine tolerance and improve metabolic control Bélanger-Quintana et al. 2011Zuñiga Vinueza 2023. Furthermore, emerging treatments including enzyme substitution and gene therapy are under investigation but are not yet standard care Zuñiga Vinueza 2023.

Psychosocial support and multidisciplinary care involving dietitians, metabolic specialists, and primary care providers are crucial to support adherence and address quality of life issues. Lifelong follow-up is recommended to monitor neurocognitive function, nutritional status, and potential complications Anton-Păduraru et al. 2025.